- Title
- Male-specific region of the y chromosome and cardiovascular risk phylogenetic analysis and gene expression studies
- Creator
- Bloomer, Lisa; Nelson, Christopher; Eales, James; Denniff, Matthew; Christofidou, Paraskevi; Debiec, Radoslaw; Moore, Jasbir; Consortium, Cardiogenics; Zukowska-Szczechowska, Ewa; Goodall, Alison; Thompson, John; Samani, Nilesh; Charchar, Fadi; Tomaszewski, Maciej
- Date
- 2013
- Type
- Text; Journal article
- Identifier
- http://researchonline.federation.edu.au/vital/access/HandleResolver/1959.17/40944
- Identifier
- vital:5099
- Identifier
-
https://doi.org/10.1161/ATVBAHA.113.301608
- Identifier
- ISSN:1079-5642
- Abstract
- Objective-Haplogroup I of male-specific region of the human Y chromosome is associated with 50% increased risk of coronary artery disease. It is not clear to what extent conventional cardiovascular risk factors and genes of the malespecific region may explain this association. Approach and Results-A total of 1988 biologically unrelated men from 4 white European populations were genotyped using 11 Y chromosome single nucleotide polymorphisms and classified into 13 most common European haplogroups. Approximately 75% to 93% of the haplotypic variation of the Y chromosome in all cohorts was attributable to I, R1a, and R1b1b2 lineages. None of traditional cardiovascular risk factors, including body mass index, blood pressures, lipids, glucose, C-reactive protein, creatinine, and insulin resistance, was associated with haplogroup I of the Y chromosome in the joint inverse variance meta-analysis. Fourteen of 15 ubiquitous single-copy genes of the male-specific region were expressed in human macrophages. When compared with men with other haplogroups, carriers of haplogroup I had 0.61- and 0.64-fold lower expression of ubiquitously transcribed tetratricopeptide repeat, Y-linked gene (UTY) and protein kinase, Y-linked, pseudogene (PRKY) in macrophages (P=0.0001 and P=0.002, respectively). Conclusions-Coronary artery disease predisposing haplogroup I of the Y chromosome is associated with downregulation of UTY and PRKY genes in macrophages but not with conventional cardiovascular risk factors. © 2013 American Heart Association, Inc.
- Relation
- Arteriosclerosis, Thrombosis, and Vascular Biology Vol. 33, no. 7 (2013), p. 1722-1727; http://purl.org/au-research/grants/nhmrc/1009490
- Rights
- Copyright 2013 American Heart Association
- Rights
- Open Access
- Rights
- This metadata is freely available under a CCO license
- Subject
- 1103 Clinical Sciences; 1102 Cardiorespiratory Medicine and Haematology; Association; Cardiovascular Risk; Dna; Mrna; C reactive protein; Creatinine; Glucose; Lipid; Protein kinase; Coronary artery disease; Disease predisposition; Down regulation; Gene expression; Genotype; Haplotype; Insulin resistance; Macrophage; Phylogeny; Pseudogene; Single nucleotide polymorphism; Tetratricopeptide repeat; Y chromosome
- Full Text
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